Pathogenesis of hemophagocytic syndrome (HPS)

Autoimmunity Reviews

Volumn 3, Issue 2, 2004, Pages 69-75

  Larroche, Claire ^a   Mouthon, Luc ^a,b  

^a AVICENNE HOSPITAL   (France)

^b UFR SMBH   (France)

Author keywords

AOSD, adult onset Still's disease; Autoimmune disease; BEACH, Beige and CHS; CHS, Chediak Higashi syndrome; CNS, central nervous system; CTL, cytotoxic T lymphocytes; Cytokines; EBV, Epstein Barr virus; Hemophagocytic syndrome; Lymphoma; Perforin; SAP protein

Indexed keywords

GAMMA INTERFERON; INTERLEUKIN 12; INTERLEUKIN 18;

APOPTOSIS; AUTOIMMUNITY; CELL DEATH; CYTOKINE RELEASE; CYTOTOXIC T LYMPHOCYTE; HEMOPHAGOCYTIC SYNDROME; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; LYMPHOCYTE ACTIVATION; LYMPHOCYTE PROLIFERATION; MACROPHAGE ACTIVATION; MACROPHAGE MIGRATION; NATURAL KILLER CELL; PATHOPHYSIOLOGY; RETICULOENDOTHELIAL SYSTEM; REVIEW; SYSTEMIC LUPUS ERYTHEMATOSUS; TARGET CELL DESTRUCTION; TH1 CELL;

AUTOIMMUNE DISEASES; CYTOKINES; HISTIOCYTOSIS, NON-LANGERHANS-CELL; HUMANS; KILLER CELLS, NATURAL; MACROPHAGES; MEMBRANE GLYCOPROTEINS; PORE FORMING CYTOTOXIC PROTEINS; T-LYMPHOCYTES;

EID: 1442274795     PISSN: 15689972     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1568-9972(03)00091-0     Document Type: Review

References (40)

1. Imashuku S. Differential diagnosis of hemophagocytic syndrome: underlying disorders and selection of the most effective treatment. Int J Hematol. 66:1997;135-151.
2. Buckley P.J., O'Laughlin S., Komp D.M. Histiocytes in familial and infection-induced/idiopathic hemophagocytic syndromes may exhibit phenotypic differences. Pediatr Pathol. 12:1992;51-66.
3. Lin W., Xiao Y., Fei H. Clinical and biological significance of clonal macrophage detection in hemophagocytic syndrome. J Huazhong Univ Sci Technol Med Sci. 22:2002;126-128.
4. Mosser D.M. The many faces of macrophage activation. J Leukoc Biol. 73:2003;209-212.
5. Dufourcq-Lagelouse R., Jabado N., Le Deist F., et al. Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity. Am J Hum Genet. 64:1999;172-179.
6. Stepp S.E., Dufourcq-Lagelouse R., Le Deist F., et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 286:1999;1957-1959.
7. Goransdotter Ericson K., Fadeel B., Nilsson-Ardnor S., et al. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet. 68:2001;590-597.
8. Yoshida N., Ishii E., Oshima K., et al. Engraftment and dissemination of T lymphocytes from primary haemophagocytic lymphohistiocytosis in scid mice. Br J Haematol. 121:2003;349-358.
9. Menasche G., Pastural E., Feldmann J., et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Natl Genet. 25:2000;173-176.
10. Sanal O., Ersoy F., Tezcan I., et al. Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. J Clin Immunol. 22:2002;237-243.
11. Karim M.A., Nagle D.L., Kandil H.H., Burger J., Moore K.J., Spritz R.A. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet. 6:1997;1087-1089.
12. Wang X., Herberg F.W., Laue M.M., et al. Neurobeachin: a protein kinase A-anchoring, beige/Chediak-Higashi protein homolog implicated in neuronal membrane traffic. J Neurosci. 20:2000;8551-8565.
13. Lay J.D., Chuang S.E., Rowe M., Su I.J. Epstein-Barr virus latent membrane protein-1 mediates upregulation of tumor necrosis factor-alpha in EBV-infected T cells: implications for the pathogenesis of hemophagocytic syndrome. J Biomed Sci. 10:2003;146-155.
14. Hayashi K., Jin Z., Onoda S., et al. Rabbit model for human EBV-associated hemophagocytic syndrome (HPS): sequential autopsy analysis and characterization of IL-2-dependent cell lines established from herpesvirus papio-induced fatal rabbit lymphoproliferative diseases with HPS. Am J Pathol. 162:2003;1721-1736.
15. Coffey A.J., Brooksbank R.A., Brandau O., et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Natl Genet. 20:1998;129-135.
16. Nichols K.E., Harkin D.P., Levitz S., et al. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci USA. 95:1998;13765-13770.
17. Sayos J., Wu C., Morra M., et al. The X-linked lymphoproliferative- disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature. 395:1998;462-469.
18. Latour S., Veillette A. Molecular and immunological basis of X-linked lymphoproliferative disease. Immunol Rev. 192:2003;212-224.
19. Chan B., Lanyi A., Song H.K., et al. SAP couples Fyn to SLAM immune receptors. Natl Cell Biol. 5:2003;155-160.
20. Bottino C., Falco M., Parolini S., et al. NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease. J Exp Med. 194:2001;235-246.
21. Czar M.J., Kersh E.N., Mijares L.A., et al. Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP. Proc Natl Acad Sci USA. 98:2001;7449-7454.
22. Crotty S., Kersh E.N., Cannons J., Schwartzberg P.L., Ahmed R. SAP is required for generating long-term humoral immunity. Nature. 421:2003;282-287.
23. Sullivan K.E., Delaat C.A., Douglas S.D., Filipovich A.H. Defective natural killer cell function in patients with hemophagocytic lymphohistiocytosis and in first-degree relatives. Pediatr Res. 44:1998;465-468.
24. Imashuku S., Hyakuna N., Funabiki T., et al. Low natural killer activity and central nervous system disease as a high-risk prognostic indicator in young patients with hemophagocytic lymphohistiocytosis. Cancer. 94:2002;3023-3031.
25. Schneider E.M., Lorenz I., Muller-Rosenberger M., Steinbach G., Kron M., Janka-Schaub G.E. Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytolysis but normal expression of transcripts relevant to killer-cell-induced apoptosis. Blood. 100:2002;2891-2898.
26. Osugi Y., Hara J., Tagawa S., et al. Cytokine production regulating Th1 and Th2 cytokines in hemophagocytic lymphohistiocytosis. Blood. 89:1997;4100-4103.
27. Takada H., Nomura A., Ohga S., Hara T. Interleukin-18 in hemophagocytic lymphohistiocytosis. Leuk Lymphoma. 42:2001;21-28.
28. Henter J.I., Elinder G., Soder O., Hansson M., Andersson B., Andersson U. Hypercytokinemia in familial hemophagocytic lymphohistiocytosis. Blood. 78:1991;2918-2922.
29. Akashi K., Hayashi S., Gondo H., et al. Involvement of interferon-gamma and macrophage colony-stimulating factor in pathogenesis of haemophagocytic lymphohistiocytosis in adults. Br J Haematol. 87:1994;243-250.
30. Hasegawa H., Takenaka K., Kajiyama K., et al. Virus-associated hemophagocytic syndrome after hepatic resection: a case report. Hepatogastroenterology. 45:1998;216-219.
31. Ishii E., Ohga S., Aoki T., et al. Prognosis of children with virus-associated hemophagocytic syndrome and malignant histiocytosis: correlation with levels of serum interleukin-1 and tumor necrosis factor. Acta Haematol. 85:1991;93-99.
32. Teruya-Feldstein J., Setsuda J., Yao X., et al. MIP-1alpha expression in tissues from patients with hemophagocytic syndrome. Lab Invest. 79:1999;1583-1590.
33. Imashuku S., Hibi S., Sako M., et al. Soluble interleukin-2 receptor: a useful prognostic factor for patients with hemophagocytic lymphohistiocytosis. Blood. 86:1995;4706-4707.
34. Hasegawa D., Kojima S., Tatsumi E., et al. Elevation of the serum Fas ligand in patients with hemophagocytic syndrome and Diamond-Blackfan anemia. Blood. 91:1998;2793-2799.
35. Emmenegger U., Zehnder R., Frey U., Reimers A., Spaeth P.J., Neftel K.A. Elevation of soluble Fas and soluble Fas ligand in reactive macrophage activation syndromes. Am J Hematol. 64:2000;116-119.
36. Dhote R, Simon J, Papo T, et al. 'Reactive hemophagocytic syndrome in adult systemic disease. Report of 26 cases and literature review. Arthritis Rheum 2003, in press.
37. Wong C.K., Li E.K., Ho C.Y., Lam C.W. Elevation of plasma interleukin-18 concentration is correlated with disease activity in systemic lupus erythematosus. Rheumatology (Oxford). 39:2000;1078-1081.
38. Kawashima M., Yamamura M., Taniai M., et al. Levels of interleukin-18 and its binding inhibitors in the blood circulation of patients with adult-onset Still's disease. Arthritis Rheum. 44:2001;550-560.
39. Sugiura T., Kawaguchi Y., Harigai M., et al. Association between adult-onset Still's disease and interleukin-18 gene polymorphisms. Genes Immun. 3:2002;394-399.
40. Maeno N, Takei S, Nomura Y, Imanaka H, Hokonohara M, Miyata K. Highly elevated serum levels of interleukin-18 in systemic juvenile idiopathic arthritis but not in other juvenile idiopathic arthritis subtypes or in Kawasaki disease: comment on the article by Kawashima et al. Arthritis Rheum 2002; 46:2539-2541; author reply 2541-2542.